Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.W428R

TPO

753 papers

RefSeq Summary

This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues ...

Pfam Domains

An_peroxidaseaa 151–709UCSCAnimal haem peroxidase
Sushiaa 742–794UCSCSushi repeat (SCR repeat)
EGF_CAaa 796–838UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

thyroid peroxidase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001206744.2
p.W428R
c.1282T>C
Surrounding Variants
1 paper
NM_001206744.2
p.W428R
c.1282T>A
4 papers
NM_001206744.2
p.W428S
c.1283G>C
1 paper
NM_001206744.2
p.W428C
c.1284G>C
1 paper
NM_001206744.2
p.A426_H427insFs
c.1278_1279ins4
1 paper
NM_001206744.2
p.A426E
c.1277C>A
2 papers
NM_001206744.2
p.A426G
c.1277C>G
1 paper
NM_001206744.2
p.A430T
c.1288G>A
1 paper
NM_001206744.2
p.A426insFs
c.1277_1278ins4
1 paper
NM_001206744.2
p.N425K
c.1275T>A
1 paper
NM_001206744.2
p.N425K
c.1275T>G
1 paper
NM_001206744.2
p.N425S
c.1274A>G
1 paper
NM_001206744.2
p.D431G
c.1292A>G
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